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Page 1
Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed.
Ladopoulou A, Kroupis C, Konstantopoulou I, Ioannidou-Mouzaka L, Schofield AC, Pantazidis A, Armaou S, Tsiagas I, Lianidou E, Efstathiou E, Tsionou C, Panopoulos C, Mihalatos M, Nasioulas G, Skarlos D, Haites NE, Fountzilas G, Pandis N, Yannoukakos D. Ladopoulou A, et al. Cancer Lett. 2002 Nov 8;185(1):61-70. doi: 10.1016/s0304-3835(01)00845-x. Cancer Lett. 2002. PMID: 12142080
Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.
Stavropoulou AV, Fostira F, Pertesi M, Tsitlaidou M, Voutsinas GE, Triantafyllidou O, Bamias A, Dimopoulos MA, Timotheadou E, Pectasides D, Christodoulou C, Klouvas G, Papadimitriou C, Makatsoris T, Pentheroudakis G, Aravantinos G, Karydakis V, Yannoukakos D, Fountzilas G, Konstantopoulou I. Stavropoulou AV, et al. PLoS One. 2013;8(3):e58182. doi: 10.1371/journal.pone.0058182. Epub 2013 Mar 11. PLoS One. 2013. PMID: 23536787 Free PMC article.
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J. Findlay GM, et al. Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12. Nature. 2018. PMID: 30209399 Free PMC article.
Thermal unfolding of human BRCA1 BRCT-domain variants.
Nikolopoulos G, Pyrpassopoulos S, Thanassoulas A, Klimentzou P, Zikos C, Vlassi M, Vorgias CE, Yannoukakos D, Nounesis G. Nikolopoulos G, et al. Biochim Biophys Acta. 2007 Jun;1774(6):772-80. doi: 10.1016/j.bbapap.2007.03.018. Epub 2007 Apr 6. Biochim Biophys Acta. 2007. PMID: 17493881
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.
Carvalho M, Pino MA, Karchin R, Beddor J, Godinho-Netto M, Mesquita RD, Rodarte RS, Vaz DC, Monteiro VA, Manoukian S, Colombo M, Ripamonti CB, Rosenquist R, Suthers G, Borg A, Radice P, Grist SA, Monteiro AN, Billack B. Carvalho M, et al. Mutat Res. 2009 Jan 15;660(1-2):1-11. doi: 10.1016/j.mrfmmm.2008.09.017. Epub 2008 Oct 17. Mutat Res. 2009. PMID: 18992264 Free PMC article.
13 results